Trisomy 13 Syndrome (Trisomy Dl Syndrome, Patau Syndrome, Reese Syndrome)
General: Extra chromosome in the D group; fatal in the first few months o 919d36j f life; trisomy 13-l5 resembles trisomy D1.
Ocular: Anophthalmia; microphthalmia; iris coloboma; cataracts; retinal dysplasia; optic nerve coloboma; optic atrophy; iris dyplasia; calcified lens; retinal detachment; optic nerve hypoplasia; orbital cysts.
Clinical: Apneic spells; developmental deficiency of the nervous system; seizures (minor motor); deafness; cleft lip and palate; hemangiomata; horizontal palmar creases; hyperconvex fingernails; interventricular septal defects; renal abnormalities; cardiovascular changes; respiratory involvement; gastrointestinal disease; urogenital involvement; cerebral hypoplasia with hydrocephalus; mental retardation.
Apple DJ. Patau syndrome. Am J Ophthalmol 1970; 70:383.
Cogan DG, Kuwabara T. Ocular pathology of the 13-l5 trisomy syndrome. Arch Ophthalmol 1964; 72:246.
Ginsberg J, Bove KE. Ocular pathology of trisomy 13. Ann Ophthalmol 1974; 6: 113.
Siliaeva NF. Eye developmental defects in Patau's syndrome (trisomy 13). Oftalmol Z 1990; 7:423-426.
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